Overview

The spontaneous kit ligand; steel (Kitl^Sl) mutation behaves in a semidominant fashion causing deficiencies in pigment cells, germ cells, and blood cells.

Genetic overview

Genetic Background	Generation

Kitl^Sl

Allele Type	Gene Symbol	Gene Name
Spontaneous	Kitl	kit ligand

Pde6b^rd1

Allele Type	Gene Symbol	Gene Name
Spontaneous	Pde6b	phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide

Allele Type	Gene Symbol	Gene Name
Not Applicable	Ahr	aryl-hydrocarbon receptor

Research Applications

Metabolism Research
Research Tools
Cancer Research
Dermatology Research
Developmental Biology Research
Endocrine Deficiency Research
Sensorineural Research
Mouse/Human Gene Homologs

View All Research Applications

Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Important Note

This strain is homozygous for the retinal degeneration allele Pde6b^rd1. See article "Genetic Background Effects: Can Your Mice See?", JAX^® NOTES Spring 2002, No. 485.

Detailed Description

The multiple steel mutations (Kitl^Sl) behave in a semidominant fashion and cause deficiencies in pigment cells, germ cells, and blood cells paralleling those caused by the Kit locus mutations (dominant spotting alleles). Most of the alleles at steel locus cause severe anemia in utero and death by 15 to 16 days of gestation in homozygous mutant mice. However, compounds of two steel mutants (e.g. Kitl^Sl/Kitl^Sl-d) are viable, black-eyed white, are usually sterile in one or both sexes, and have severe macrocytic anemia. Heterozygous steel mice have a diluted coat color with a small amount of white spotting, are viable and fertile, and may have a slight macrocytic anemia. Primordial germ cells are absent in the nonviable steel homozygotes and severely reduced in steel heterozygotes. Mast cells are virtually absent in skin and other tissues of steel mutant mice. Tumors tend to develop in germ-cell-deficient ovaries with advancing age.

Development

Inbreeding started in 1948 from a heterozygous Kitl^W / + stock (same origin as the WB/ReJ strain). Kitl^sl (steel) mutation backcrossed to strain WB-+/+. Now maintained as a congenic strain for Kitl^sl.

Control Suggestions

Wild-type from the colony

Additional Information

Considerations for Choosing Controls

Selected References

Arguello F; Furlanetto RW; Baggs RB; Graves BT; Harwell SE; Cohen HJ; Frantz CN. 1992. Incidence and distribution of experimental metastases in mutant mice with defective organ microenvironments (genotypes Sl/Sld and W/Wv). Cancer Res 52(8):2304-9PubMed: 1559233 MGI: J:468
Hayashi C; Sonoda T; Nakano T; Nakayama H; Kitamura Y. 1985. Mast-cell precursors in the skin of mouse embryos and their deficiency in embryos of Sl/Sld genotype. Dev Biol 109(1):234-41PubMed: 3987963 MGI: J:7810
Huang E; Nocka K; Beier DR; Chu TY; Buck J; Lahm HW; Wellner D; Leder P; Besmer P. 1990. The hematopoietic growth factor KL is encoded by the Sl locus and is the ligand of the c-kit receptor, the gene product of the W locus. Cell 63(1):225-33PubMed: 1698557 MGI: J:10751
Murphy ED. 1977. Effects of mutant steel alleles on leukemogenesis and life-span in the mouse. J Natl Cancer Inst 58(1):107-10PubMed: 319242 MGI: J:5758
Shinohara T; Avarbock MR; Brinster RL. 2000. Functional analysis of spermatogonial stem cells in Steel and cryptorchid infertile mouse models. Dev Biol 220(2):401-11PubMed: 10753526 MGI: J:61712
Zsebo KM; Williams DA; Geissler EN; Broudy VC; Martin FH; Atkins HL; Hsu RY; Birkett NC; Okino KH; Murdock DC; Jacobsen FW; Langley KE; Smith KA; Takeishi T; Cattanach BM; Galli SJ; Suggs SV. 1990. Stem cell factor is encoded at the Sl locus of the mouse and is the ligand for the c-kit tyrosine kinase receptor. Cell 63(1):213-24PubMed: 1698556 MGI: J:10750

View All References

Genetics

Kitl^Sl

Allele Symbol: Kitl^Sl

Allele Name	steel
Allele Type	Spontaneous
Allele Synonym(s)	Mgf^Sl; Sl
Gene Symbol and Name	Kitl, kit ligand
Gene Synonym(s)
Strain of Origin	C3H
Chromosome	10
Molecular Note	By Southern blotting, it was concluded that this allele contains a deletion encompassing most, if not all, of the coding region of the gene. A probe corresponding to nucleotides 6 to 685 of the cDNA failed to hybridize to DNA obtained from embryos homozygous for this allele. PCR analysis with primers for sequences at various distances from the Kit gene narrowed the 5' and 3' deletion endpoints to a 350 and a 380 base-pair region, respectively. Sequencing of the product of PCR using primers designed to span the deletion revealed that it extends through 973,366 base pairs on Chromosome 10 between nucleotide positions 99,177,807 and 100,151,173 (NCBI Map Viewer, Build 36.1), with a 4-base pair insertion joining the deletion endpoints, and contains 6 predicted and 3 known genes.

Pde6b^rd1

Allele Symbol: Pde6b^rd1

Allele Name	retinal degeneration 1
Allele Type	Spontaneous
Allele Synonym(s)	Pdeb^rd1; rd; rd1; rd-1; rodless retina
Gene Symbol and Name	Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide
Gene Synonym(s)
Strain of Origin	various
Chromosome	5
General Note	The following inbred strains are known to be homozygous for Pde6b: C3H sublines, CBA/J, FVB/NJ, PL/J, SB, SJL/J, and SWR/J.
Molecular Note	Two mutations have been identified in rd1 mice. A murine leukimia virus (Xmv-28) insertion in reverse orientation in intron 1 is found in all mouse strains with the rd1 phenotype. Further, a nonsense mutation (C-to-A transversion) in codon 347 that results in a truncation eliminating more than half of the predicted encoded protein, including the catalytic domain, has been identified in all rd1 strains of mice. A specific degradation of mutant transcript during or after pre-mRNA splicing is suggested.

Ahr^d

Allele Symbol: Ahr^d

Allele Name	d variant
Allele Type	Not Applicable
Allele Synonym(s)	ah; Ah^d; Ah^k; Ahhⁿ; AhRd; in
Gene Symbol and Name	Ahr, aryl-hydrocarbon receptor
Gene Synonym(s)
Strain of Origin	Not Applicable
Chromosome	12
General Note	Strain of origin - this allele was found in DBA/2J, AKR/J, 129, SWR, RF, NZB strains
Molecular Note	This allele encodes a 104 kDa receptor that is stabilized by molybdate and has an affinity for ligand 10-100 fold lower than that of the receptor produced by the C57BL/6J allele. PCR sequencing of cDNA revealed ten nucleotide differences between the coding sequences of the DBA/2J and C57BL/6J receptors. Five of the ten differences would cause amino acid changes. One of these, an apparent T to C transition replaces the opal termination codon in the C57BL/6J allele with an arginine codon in the DBA/2J allele. This change would extend translation of the DBA/2J mRNA by 43 amino acids, accounting for the larger size of the peptide produced by this allele (104 kDa vs 95 kDa for the C57BL/6J allele). A second T to C transition changes a leucine codon in the C57BL/6J allele to a proline codon in the DBA/2J allele, and would likely change secondary structure of the peptide and thus ligand affinity.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Ahr^d related

Metabolism Research
Research Tools
- Toxicology Research

Genotype: Kitl^Sl related

Cancer Research
- Growth Factors/Receptors/Cytokines
- Increased Tumor Incidence
  - Gonadal Tumors
  - Gonadal Tumors: ovarian and testicular
Dermatology Research
- Color and White Spotting Defects
Developmental Biology Research
- Neural Crest Defects
Endocrine Deficiency Research
- Bone/Bone Marrow Defects
- Gonad Defects
- Hypothalamus/Pituitary Defects
- Skin Defects
Reproductive Biology Research
- Developmental Defects Affecting Gonads
  - germ cell deficient
- Fertility Defects
- Gonadal Tumors
  - ovarian and testicular
Research Tools
- Immunology, Inflammation and Autoimmunity Research
  - Mast Cell Deficiency
Immunology, Inflammation and Autoimmunity Research
- Immunodeficiency
  - Mast Cell Deficiency
- Growth Factors/Receptors/Cytokines
Neurobiology Research
- Hearing Defects
Sensorineural Research
- Hearing Defects

Genotype: Pde6b^rd1 related

Sensorineural Research
- Retinal Degeneration
Mouse/Human Gene Homologs
- retinitis pigmentosa, autosomal recessive

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Kitl^Sl/Kitl⁺
involves: C3H

craniofacial phenotype

decreased ear pigmentation
- mice have light ears

integument phenotype

diluted coat color
- affected mice have overall dilution of coat color, more extreme on the belly than back
- reduced coat color

pallor
- some pups after birth are pale compared to littermates

decreased ear pigmentation
- mice have light ears

decreased foot pigmentation
- mice have light feet

head blaze
- very occasionally mice have a white blaze between their eyes

abnormal vibrissa morphology
- mice have light whiskers

belly spot
- most mice have a white spot on the belly

head spot
- most mice have a white spot on the belly

mammalian phenotype

reproductive system phenotype
- Normal - heterozygotes are viable and fertile

pigmentation phenotype

belly spot
- most mice have a white spot on the belly

diluted coat color
- reduced coat color
- affected mice have overall dilution of coat color, more extreme on the belly than back

decreased ear pigmentation
- mice have light ears

head blaze
- very occasionally mice have a white blaze between their eyes

decreased foot pigmentation
- mice have light feet

head spot
- most mice have a white spot on the belly

growth/size/body region phenotype

decreased ear pigmentation
- mice have light ears

hearing/vestibular/ear phenotype

decreased ear pigmentation
- mice have light ears

hematopoietic system phenotype

anemia
- mice display less severe anemia than homozygotes

decreased erythrocyte cell number
- at 7-13 days of age, red blood cell counts are 20-30% lower than wild-type

Genotype: Kitl^Sl/Kitl⁺
involves: 129/Sv * C3H

reproductive system phenotype

increased testicular teratoma incidence
- tumors are predominantly in left testis (71%) vs right (27%) or bilateral (2%)
- percentage is greater in second and subsequent litters compared to first litter or in first litter of older females compared to young mothers
- incidence is 6.92% compared to ~2.6% in controls

endocrine/exocrine gland phenotype

increased testicular teratoma incidence
- tumors are predominantly in left testis (71%) vs right (27%) or bilateral (2%)
- percentage is greater in second and subsequent litters compared to first litter or in first litter of older females compared to young mothers
- incidence is 6.92% compared to ~2.6% in controls

neoplasm

increased tumor incidence
- male mice develop ~2-fold more tumors than controls

increased testicular teratoma incidence
- percentage is greater in second and subsequent litters compared to first litter or in first litter of older females compared to young mothers
- incidence is 6.92% compared to ~2.6% in controls
- tumors are predominantly in left testis (71%) vs right (27%) or bilateral (2%)

Genotype: Kitl^Sl/Kitl^Sl
involves: C3H

cardiovascular system phenotype

abnormal blood circulation
- in affected (anemic) animals, individual clumps or red blood cells can be seen in umbilical vessels; in controls, vessels are uniformly red with normal blood flow

nervous system phenotype

myelencephalic blebs
- one E17.5 embryo displayed a bleb near the midline in the cervical region

abnormal brain development
- from E14.5-17.5, some embryos show abnormal brain development (3/330) as described in younger embryos
- at E10.5-12.5, small number of embryos, presumably homozygous, have brain abnormalities, including a collapsed brain, pseudoencephaly or a narrowed brain region

spina bifida
- 4/330 embryos aged E14.5-17.5 displayed spina bifida

pigmentation phenotype

absent skin pigmentation
- transplantation of skin grafts from E14, E15 and newborn mutants to normal siblings produced unpigmented hair

reproductive system phenotype

infertility
- mice carrying two mutant alleles are sterile

embryo phenotype

spina bifida
- 4/330 embryos aged E14.5-17.5 displayed spina bifida

hematopoietic system phenotype

anemia
- starting around E13.5 and peaking at E14.5, presumed homozygotes display anemia recognized by overall paleness of the embryos

integument phenotype

pallor
- characteristic of anemic embryos

absent skin pigmentation
- transplantation of skin grafts from E14, E15 and newborn mutants to normal siblings produced unpigmented hair

mortality/aging

lethality throughout fetal growth and development, complete penetrance
- no presumed homozygotes are born; homozygotes begin to die at ~E15-15.5 from anemia
- an occasional mutant survives until birth

Genotype: Kitl^Sl/Kitl⁺
either: (involves: C3H * WC) or (involves: C3H * C57BL/6 * DBA/2J * WC)

hematopoietic system phenotype

decreased mast cell number
- heterozygotes have decreased mast cell numbers in dorsal skin compared to wild-type

anemia
- mice are slightly anemic

immune system phenotype

decreased mast cell number
- heterozygotes have decreased mast cell numbers in dorsal skin compared to wild-type

References

Arguello F; Furlanetto RW; Baggs RB; Graves BT; Harwell SE; Cohen HJ; Frantz CN. 1992. Incidence and distribution of experimental metastases in mutant mice with defective organ microenvironments (genotypes Sl/Sld and W/Wv). Cancer Res 52(8):2304-9PubMed: 1559233 MGI: J:468
Hayashi C; Sonoda T; Nakano T; Nakayama H; Kitamura Y. 1985. Mast-cell precursors in the skin of mouse embryos and their deficiency in embryos of Sl/Sld genotype. Dev Biol 109(1):234-41PubMed: 3987963 MGI: J:7810
Huang E; Nocka K; Beier DR; Chu TY; Buck J; Lahm HW; Wellner D; Leder P; Besmer P. 1990. The hematopoietic growth factor KL is encoded by the Sl locus and is the ligand of the c-kit receptor, the gene product of the W locus. Cell 63(1):225-33PubMed: 1698557 MGI: J:10751
Murphy ED. 1977. Effects of mutant steel alleles on leukemogenesis and life-span in the mouse. J Natl Cancer Inst 58(1):107-10PubMed: 319242 MGI: J:5758
Shinohara T; Avarbock MR; Brinster RL. 2000. Functional analysis of spermatogonial stem cells in Steel and cryptorchid infertile mouse models. Dev Biol 220(2):401-11PubMed: 10753526 MGI: J:61712
Zsebo KM; Williams DA; Geissler EN; Broudy VC; Martin FH; Atkins HL; Hsu RY; Birkett NC; Okino KH; Murdock DC; Jacobsen FW; Langley KE; Smith KA; Takeishi T; Cattanach BM; Galli SJ; Suggs SV. 1990. Stem cell factor is encoded at the Sl locus of the mouse and is the ligand for the c-kit tyrosine kinase receptor. Cell 63(1):213-24PubMed: 1698556 MGI: J:10750

Additional References

Chang B; Hawes NL; Hurd RE; Davisson MT; Nusinowitz S; Heckenlively JR. 2002. Retinal degeneration mutants in the mouse. Vision Res 42(4):517-25PubMed: 11853768 MGI: J:75095
Poland A; Glover E. 1990. Characterization and strain distribution pattern of the murine Ah receptor specified by the Ahd and Ahb-3 alleles. Mol Pharmacol 38(3):306-12PubMed: 2169579 MGI: J:34840
Schrott A; Egg G; Spoendlin H. 1988. Intermediate filaments in the cochleas of normal and mutant (w/wv, sl/sld) mice. Arch Otorhinolaryngol 245(4):250-4PubMed: 2460075 MGI: J:9423
Wolf NS. 1978. Dissecting the hematopoietic microenvironment. II. The kinetics of the erythron of the S1/S1d mouse and the dual nature of its anemia. Cell Tissue Kinet 11(4):325-34PubMed: 688326 MGI: J:6031

Additional - Ahr^d related

Additional - Kitl^Sl related

Additional - Pde6b^rd1 related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Appearance
- dark grey with white head blaze, affected
  Related Genotype: a/a Kitl^Sl/+
  
  black, unaffected
  Related Genotype: a/a +/+
Citation
When using the WC/ReJ Kitl^Sl/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #000693 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
> >	Heterozygous or Wild-type for Kitl<Sl>. Minimum of two pair required

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Genetic overview

Research Applications

Base Price

Important Note

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

KitlSl

Allele Symbol: KitlSl

Pde6brd1

Allele Symbol: Pde6brd1

Ahrd

Allele Symbol: Ahrd

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Ahrd related

Genotype: KitlSl related

Genotype: Pde6brd1 related

Mammalian Phenotype Terms by Genotype

Genotype: KitlSl/Kitl+involves: C3H

craniofacial phenotype

integument phenotype

mammalian phenotype

pigmentation phenotype

growth/size/body region phenotype

hearing/vestibular/ear phenotype

hematopoietic system phenotype

Genotype: KitlSl/Kitl+involves: 129/Sv * C3H

reproductive system phenotype

endocrine/exocrine gland phenotype

neoplasm

Genotype: KitlSl/KitlSlinvolves: C3H

cardiovascular system phenotype

nervous system phenotype

pigmentation phenotype

reproductive system phenotype

embryo phenotype

hematopoietic system phenotype

integument phenotype

mortality/aging

Genotype: KitlSl/Kitl+either: (involves: C3H * WC) or (involves: C3H * C57BL/6 * DBA/2J * WC)

hematopoietic system phenotype

immune system phenotype

References

Additional References

Additional - Ahrd related

Additional - KitlSl related

Additional - Pde6brd1 related

Genotyping Protocols

Appearance

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Kitl^Sl

Allele Symbol: Kitl^Sl

Pde6b^rd1

Allele Symbol: Pde6b^rd1

Ahr^d

Allele Symbol: Ahr^d

Genotype: Ahr^d related

Genotype: Kitl^Sl related

Genotype: Pde6b^rd1 related

Genotype: Kitl^Sl/Kitl⁺
involves: C3H

Genotype: Kitl^Sl/Kitl⁺
involves: 129/Sv * C3H

Genotype: Kitl^Sl/Kitl^Sl
involves: C3H

Genotype: Kitl^Sl/Kitl⁺
either: (involves: C3H * WC) or (involves: C3H * C57BL/6 * DBA/2J * WC)

Additional - Ahr^d related

Additional - Kitl^Sl related

Additional - Pde6b^rd1 related